Homo sapiens Gene: SLC25A12
Summary
InnateDB Gene IDBG-74991.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SLC25A12
Gene Name solute carrier family 25 (aspartate/glutamate carrier), member 12
Synonyms AGC1; ARALAR;
Species Homo sapiens
Ensembl Gene ENSG00000115840
Encoded Proteins
solute carrier family 25 (mitochondrial carrier, Aralar), member 12
solute carrier family 25 (mitochondrial carrier, Aralar), member 12
solute carrier family 25 (mitochondrial carrier, Aralar), member 12
solute carrier family 25 (mitochondrial carrier, Aralar), member 12
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a calcium-binding mitochondrial carrier protein. The encoded protein localizes to the mitochondria and is involved in the exchange of aspartate for glutamate across the inner mitochondrial membrane. Polymorphisms in this gene may be associated with autism, and mutations in this gene may also be a cause of global cerebral hypomyelination. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:171784370-171999859
Strand Reverse strand
Band q31.1
Transcripts
ENST00000263812 ENSP00000263812
ENST00000422440 ENSP00000388658
ENST00000426896 ENSP00000413968
ENST00000472070
ENST00000494892
ENST00000485880
ENST00000475360 ENSP00000437845
ENST00000472748
ENST00000484227
ENST00000464063
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 19 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 19 [view]
Protein-Protein 19 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005313 L-glutamate transmembrane transporter activity
GO:0005509 calcium ion binding
GO:0015183 L-aspartate transmembrane transporter activity
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0006006 glucose metabolic process
GO:0006094 gluconeogenesis
GO:0015810 aspartate transport
GO:0015813 L-glutamate transport
GO:0043490 malate-aspartate shuttle
GO:0044281 small molecule metabolic process
GO:0051592 response to calcium ion
GO:0055085 transmembrane transport
Cellular Component
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Myoclonic epilepsy of Lafora pathway
Metabolism of carbohydrates pathway
Metabolism of proteins pathway
Gluconeogenesis pathway
Metabolism pathway
Mitochondrial protein import pathway
Disease pathway
Glucose metabolism pathway
Glycogen storage diseases pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.470608 Hs.600886 Hs.613687
RefSeq NM_003705 XM_005246923
HUGO
OMIM
CCDS CCDS33327
HPRD 04719
IMGT
EMBL
GenPept
RNA Seq Atlas